rs786204964

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTCTCACCACAGATCTAACAGC;GTCTCACCACAGATCTAACAGC)	0	common in clinvar

Make rs786204964(-;-)

Make rs786204964(-;GTCTCACCACAGATCTAACAGC)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18603932

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204964
dbSNP (classic)	rs786204964
ClinGen	rs786204964
ebi	rs786204964
HLI	rs786204964
Exac	rs786204964
Gnomad	rs786204964
Varsome	rs786204964
LitVar	rs786204964
Map	rs786204964
PheGenI	rs786204964
Biobank	rs786204964
1000 genomes	rs786204964
hgdp	rs786204964
ensembl	rs786204964
geneview	rs786204964
scholar	rs786204964
google	rs786204964
pharmgkb	rs786204964
gwascentral	rs786204964
openSNP	rs786204964
23andMe	rs786204964
SNPshot	rs786204964
SNPdbe	rs786204964
MSV3d	rs786204964
GWAS Ctlg	rs786204964

Max Magnitude

0

ClinVar
Risk	rs786204964(-;-)
Alt	rs786204964(-;-)
Reference	Rs786204964(GTCTCACCACAGATCTAACAGC;GTCTCACCACAGATCTAACAGC)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18622052_18622073del22
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000169991.1,